G14S (p.Gly14Ser) variant of GHR (Growth hormone receptor)
G14S (p.Gly14Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- gnomAD 5-42565872-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available